Canonical Allele Identifier: CA245339

Gene: ANKRD1

Linked Data

• ClinVar Variation Id: 191577
• ClinVar RCV Id: RCV000171828 ; RCV000183297 ; RCV000458316 ; RCV000724536 ; RCV000619346 ; RCV001104802 ; RCV001256727 ; RCV003937540
• dbSNP Id: rs145387010
• ExAC: 10:92678707 G / A
• gnomAD v2: 10-92678707-G-A
• gnomAD v3: 10-90918950-G-A
• gnomAD v4: 10-90918950-G-A
• MyVariant Identifiers: chr10:g.92678707G>A (hg19) ; chr10:g.90918950G>A (hg38)
• PubMed: PMID:19608031 ; PMID:23299917 ; PMID:23572067 ; PMID:23861362

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.90918950G>A , CM000672.2:g.90918950G>A	GRCh38
NC_000010.10:g.92678707G>A , CM000672.1:g.92678707G>A	GRCh37
NC_000010.9:g.92668687G>A	NCBI36
NG_023227.1:g.7326C>T , LRG_379:g.7326C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371697.4:c.368C>T MANE Select	ENSP00000360762.3:p.Thr123Met
ENST00000371697.3:c.368C>T	ENSP00000360762.3:p.Thr123Met
NM_014391.2:c.368C>T , LRG_379t1:c.368C>T	NP_055206.2:p.Thr123Met
NM_014391.3:c.368C>T MANE Select	NP_055206.2:p.Thr123Met